1




                    EuroGentest
                       Unit 6
      Patient and Professional Perspectives of
      G...
2


Core competences in genetics for health professionals in
Europe
Section    Topic                                      ...
3

             involved.

PART 1. BACKGROUND AND DESCRIPTION

1. Rationale and scope of the document

The science of geno...
4

infrastructure, tools, resources, guidelines and procedures that will structure,
harmonize and improve the overall qual...
5

The term genomics relates to the interactions between genes and the environment
that influence health and disease (Coll...
6



b) Specialist genetic nurses and genetic counsellors
In preparation for the introduction of a formal registration sys...
7

The National Coalition for Health Professions Education in Genetics (NCHPEG)
established in 1997 is an interdisciplinar...
8



Given the need to prepare a range of healthcare professionals across the primary,
secondary and tertiary care spectru...
9

breast surgeons, haematologists, fetal medicine midwives, obstetricians, sickle cell
disease nurses, and specialist den...
10

Table 1. Professional titles used in different European countries.
Note to readers: please let us know the correct ter...
11

health professionals who are not genetic specialists has been devised. However, the
sets of competences, learning outc...
12


PART 2. CORE COMPETENCES FOR HEALTH
PROFESSIONALS

2.1 General structure

Relevant definitions

There are many differ...
13



It should be emphasised that genetic healthcare is based on a team approach, with
practitioners from a range of disc...
14

Table 2. General foundational structure for genetic healthcare interventions,
core competences and type of professiona...
15




Posttest       help individuals and families to   X   X   X
genetic         understand the information
counselling...
16


2.2 General healthcare professionals

1. Medical doctor – general practitioner

• Professional background
Medically q...
17

                    3.1 Demonstrates an awareness of the different uses of
3. Manage           genetic tests (diagnost...
18

                    6.1 Demonstrates an awareness of the emotional impact
6. Offer            of a genetic diagnosis o...
19

2. Nurse /allied health professional

• Professional background
Nurses and allied health professionals.
• Setting for ...
20

knowledge of the     the common inherited conditions.
role of genetic
and other factors    4.2 Understands how disease...
21

3. Biologist

• Professional background
The biologist is generally educated via a graduate program, gaining additional...
22



           4.        Health and social care workers in other categories, including
                     pharmacist, ...
23


2.3 Specialists (speciality other than genetics)

   1. Medical doctor

• Professional background
The medical special...
24

                    2.5 Demonstrates an awareness that a patient’s cultural
                    and religious backgrou...
25

                    7.1 Demonstrates an awareness of the emotional impact
7. Offer            of a genetic diagnosis o...
26

   2. Midwife or nurse working in a specialist field

• Professional background
Nurses and midwives may develop specia...
27

knowledge of the    especially in relations to own area of specialisation.
role of genetic
and other factors   4.2 Edu...
28



3. Specialist Dentist
• Professional background
The dental specialist has undertaken additional training in a partic...
29



                    2.5 Demonstrates an awareness that a patient’s cultural
                    and religious backgr...
30

                    6.1 Demonstrates an awareness of the emotional impact
6. Offer            of a genetic diagnosis o...
31


2.4 Genetics specialist

General comments

  •   Clinical genetics, a medical specialty as well as an extensive field...
32

 1. Clinical geneticist

   • Professional background
   The Clinical or Medical Geneticist is a qualified medical pra...
33

4. Provide an accurate speciality-        4.1 Actively seeks opportunities to
focused view on the nature of a         ...
34

8. Facilitate understanding between      8.1 Communicates information about the
individuals, families, their family   ...
35

    2. Oncology geneticist

•    Professional background
     The oncology geneticist or cancer geneticist is a qualif...
36

3. Utilise genetic and other     3.1 Recognises when genetic testing is
appropriate laboratory tests     appropriate i...
37

6. Utilise the healthcare     6.1 Understands the organisation of cancer
system for promotion of       genetics servic...
38

    3. Specialist genetic nurse and genetic counsellor

While the work undertaken by genetic nurses and genetic counse...
39



Competence                Learning outcomes
1. Establish              1.1 Establishes an environment which facilitat...
40

4. Make a               4.1 Ascertains psychological needs of the individual or
assessment of           family.
client...
41

11. Contribute to the    11.1 Evaluates own practice and that of others in the light of
development and          new e...
42

16. Demonstrate           16.1 Actively seeks opportunities to update knowledge and
continuing                skills, ...
43

 4. Molecular geneticist

The molecular geneticist is a qualified laboratory specialist who is trained in
molecular ge...
44

3. Interpret the     3.1 Understands principles of inheritance to determine the risk
results of genetic   of occurrenc...
45

 5. Cytogeneticist

   •   Professional background

The clinical cytogeneticist is a qualified laboratory specialist w...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
1.3 Enables clients to make informed choices about the ...
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  1. 1. 1 EuroGentest Unit 6 Patient and Professional Perspectives of Genetic Information/Education in Europe Unit 6.2. Professional Perspective Core competences in genetics for health professionals in Europe Authors: Heather Skirton Domenico Coviello Celine Lewis Alastair Kent, Nadia Cerratto
  2. 2. 2 Core competences in genetics for health professionals in Europe Section Topic Page PART 1 BACKGROUND AND DESCRIPTION 3 1.1 Rationale and scope of the document 3 1.2 Evidence provided for the need for further genetic education for 4 health professionals 1.3 Existing core competences in genetics for health professionals 5 1.4 Categorisation of the three professional groups and the need to 7 describe different levels of competence 1.5 Obtaining consensus on a set of core competences 10 PART 2 SUGGESTED CORE COMPETENCES FOR SPECIFIC 12 PROFESSIONAL GROUPS 2. 1 A general structure 12 2.2 General healthcare professionals 16 1. Medical doctor – general practitioner 16 2. Nurse/midwife/allied health professional 19 3. Biologist 21 4. General health and social care professionals 22 2.3 Specialists (speciality other than genetics) 23 1. Medical doctor 23 2. Nursing/midwife working in a specialist field 26 3. Specialist dentist 28 2.4 Genetics specialist 31 1. Clinical geneticist 32 2. Oncology geneticist 35 3. Specialist genetic nurse and genetic counsellor (non MD) 38 4. Molecular geneticist 43 5. Cytogeneticist 45 6. Biochemist 47 7. Psychologist/social worker 49 PART 3 References 50 List of contributors 53 Appendices Appendix Detailed information about work already undertaken in the 54 1. United Kingdom on relevant curricula and competences Appendix The genetic counsellor profession in France 56 2. Appendix An example of the classification of competences using 57 3. CanMEDS system. List of tables Table 1. Professional titles used in different European countries. 10 Table 2 General foundational structure for genetic healthcare 14 interventions, core competences and type of professional
  3. 3. 3 involved. PART 1. BACKGROUND AND DESCRIPTION 1. Rationale and scope of the document The science of genomics is increasingly important to healthcare provision in Europe as an estimated 30 million people now suffer from genetic diseases within the enlarged European community (Cassiman, 2005). Genomics is having an increasing impact on the diagnosis, prevention and treatment of common disease (Collins, 2001). The number of tests being performed is changing rapidly (Constantin et al, 2005), with a concurrent increase in the number of individuals that have to make decisions about testing that may profoundly influence not only their own lives, but the lives of their family members. More professionals will be involved in testing, either directly or in dealing with the impact of testing on healthcare provision (Guttmacher et al, 2007). It is therefore essential that health professionals are appropriately prepared to deliver such patient care. The need for professional education and existing courses and guidelines were fully described in the Report of Year One from Work Package 6.2 (http://en.eurogentest.org/files/public/unit6/EUGT_6-2_Document_1_Final_versions.p df) so these will only be briefly summarised here. Professional education and the status of clinical genetics as a specialty in Europe Information concerning the professional education in genetics in European countries as reported by the GenEd and other projects, has been fully documented in the First Report of the WP 6.2 and so will not be repeated here. That document is available at (http://en.eurogentest.org/files/public/unit6/EUGT_6-2_Document_1_Final_versions.p df). The status of clinical genetics as a specialty in Europe varies from country to country. In several countries, clinical genetics is officially recognised as a specialty, with a specific and prescribed medical training in clinical genetics in departments of genetics or genetic laboratories. However, at present it is not identified as a medical specialty at European level. The European Society of Human Genetics has established an ad hoc Board to pursue the aim of establishing medical genetics as a European specialty to facilitate development of genetic healthcare in the European community. This group has issued guidelines which have been endorsed by the ESHG Board and are being used as a basis for discussions with the European Union of Medical Specialists (UEMS). The ad hoc Board has drafted a core curriculum on genetics for medical education but these have not yet been endorsed by UEMS. Placing this document into the context of the Eurogentest project EuroGentest [www.eurogentest.org] is a project funded by the European Union for 5 years, the aim of which is to create a European Network of Excellence (NoE) in genetic testing (Hayhurst & Cassiman, 2006). It aims to develop the necessary
  4. 4. 4 infrastructure, tools, resources, guidelines and procedures that will structure, harmonize and improve the overall quality of all EU genetic services at the molecular, cytogenetic, biochemical and clinical level (Cassiman, 2005). While some of the units are naturally focussed upon the practical issues related to developments in laboratory testing (Unit 5), the quality of genetic tests (Unit 1) and the use of data generated by tests (Unit 2), there are other important aspects of the project that aim to facilitate the safe use of genetic tests in a social context within Europe. These are addressed in Units that relate to the provision of appropriate counselling to accompany genetic testing (Unit 3) and the ethical, legal and social issues surrounding testing (Unit 4). Unit 4 is now closely connected at an operational with Unit 6, which is concerned with ensuring that patients are informed of the relevant information associated with any test (Work Package 6.1) and the education of professionals who offer, arrange and perform such tests (Work Package 6.2). In this Unit, patients and professionals are working in partnership at every level of the project, each informing the priorities and work of the other. During Year 1, an extensive literature review was undertaken as a foundation for the project. This is described in the Year One Report of Work Package 6.2. In addition, several databases of direct relevance to professional education were compiled and these are available at the EuroGentest website [www.eurogentest.org]. At the meeting of the project team and experts in Leuven, December 2005, a decision was made to focus work during Year 2 on the development of a set of core competences in genetics for health professionals in Europe. The discussion that led to this decision centred around the need for a common minimum standard of education and training for all health professionals, to equip them to practise appropriately. It was obvious that the level of knowledge, skills and attitudes related to genetic healthcare varied according to the profession of the practitioner, the setting in which he or she worked and the relevance of genetics to his or her area of practice. During the discussions at the Leuven meeting, it was also acknowledged that there were significant differences in the way in which professional education was delivered and practice was regulated across the countries of Europe. While a minimum standard for practice was required, setting curricula was not viewed as a practical way of ensuring those standards were met, given the differences in systems. The establishment of core competences is currently being used as a basis for health professional education in many other fields and settings (Walton & Elliott, 2006; Wold et al, 2006; Smith, 2005). It was therefore agreed that a pragmatic and workable solution would be to describe and agree, by consensus, a set of core competences that could apply to health professionals in Europe, whatever their national setting. This could provide an appropriate framework for establishing minimum standards of preparation for health care professionals in genetics across national boundaries. While core competences in genetics have been described for some health professionals in some countries, a set of competences that could be applied across Europe to the range of health professionals involved in provision of genetic healthcare does not exist. 1.2 Evidence provided for the need for further genetic education for health professionals
  5. 5. 5 The term genomics relates to the interactions between genes and the environment that influence health and disease (Collins et al, 2003). While genetic healthcare has been offered for several decades by specialist doctors, nurses and counsellors working in the context of genetics clinics, increasingly it is clear that a knowledge of genetics is needed by health professionals to practice in the current genomic era (Guttmacher et al, 2007). As understanding of the impact of gene variation on the complex or common diseases increases, the number of health professionals who require education in genetics also rises. To respond to the needs of patients, health care providers need a set of core skills and knowledge to evaluate family history and to recognize clinical findings that indicate increased genetic risk. Many patients will approach a primary care practitioner in the first instance (Burke, 2005a) but the question of genetic contribution to a disease may also arise in the context of secondary care such as an oncology. In recent years, dentists have also been identified as practitioners who have input into diagnosis and management of genetic disease and are therefore also required to develop competences in this area (Dudlicek et al, 2004; Gettig & Hart, 2003). While specialist genetic services will continue to provide genetic diagnosis and counselling for a number of the rare inherited conditions, practitioners in both secondary and primary care will need to be equipped to deal with initial patient enquiries, to have an awareness of the potential implications of family history, to offer information related to their specific area of practice and refer individual or families appropriately to other healthcare providers, possibly including specialist genetic services. Because of the dynamic nature of the field, practitioners at all levels of health care, primary, secondary and tertiary, require both pre-registration and continuing education in genetics to ensure early diagnosis and prevention of disease. Due to the different levels of expertise required by the range of practitioners involved in delivering acceptable genetic healthcare, a set of competences at each level is also required. 1.3 Existing frameworks of core competences in genetics for health professionals A level of professional education in genetics for some specific health professionals exists in many countries in Europe. However, few countries have established sets of core competences. In this section, we will briefly describe these. 1. United Kingdom a) Nurses and midwives In the United Kingdom, the core competence work undertaken by Kirk et al (2003) focussed on nurses and midwives who work in mainstream healthcare as opposed to specialist genetic services. A research-based approach was taken to the formulation of the set of competences, using an Expert Panel of stakeholders to come to a consensus about the requisite competence in knowledge, skills and attitudes required by nurses and midwives at the point at which they became professionals registered for practice [http://www.glam.ac.uk/socsschool/research/gpu/FinalReport.pdf]. The agreed set of genetic competences have been aligned to the general statements of competence that are required of each practitioner before registration with the Nursing and Midwifery Council, the statutory body responsible for standards of practice in nursing and midwifery.
  6. 6. 6 b) Specialist genetic nurses and genetic counsellors In preparation for the introduction of a formal registration system for genetic nurses and counsellors (Skirton et al, 2003), the Education Working Party of the Association of Genetic Nurses and Counsellors in the UK devised a set of 23 competencies for genetic nurses and counsellors (non-medical) [www.agnc.org/Registration/registration.htm]. These were prepared by a group of specialist practitioners and were informed by the competences for specialist nurses published by the precursor to the Nursing and Midwifery Council, (called the United Kingdom Central Council for Nursing, Midwifery and Health Visiting). These 23 competences are used as the basis for a portfolio of evidence that is assessed prior to the awarding of registration as a genetic counsellor. c) Non-genetics healthcare professionals In the United Kingdom, a competence framework describing genetic activities that may be carried out by non-genetics healthcare staff has been developed by the NHS National Genetics Education and Development Centre, Skills for Health and a wide range of healthcare professionals [http://www.geneticseducation.nhs.uk/develop/index.asp?id=44]. This competence framework describes how each genetics activity should be performed and the underpinning knowledge and understanding required to carry out the activity. The competence framework describes 9 activities: • Understand genetics within your area of clinical practice • Identify patients with or at risk of genetic conditions • Gather multi-generational family history information • Use multi-generational family history information to draw a pedigree • Recognise a mode of inheritance in a family • Assess genetic risk • Refer individuals to specialist sources of assistance in meeting their healthcare needs • Recognise the indicators for and the implications of ordering a molecular genetic test • Communicate genetic information to patients, families and healthcare staff. These competences will be incorporated into job descriptions of health professionals to describe a competence benchmark for any genetics activity they currently perform. Only those competences relevant to the healthcare professional’s role will be included in their job descriptions. d) Medical professionals Work has been undertaken in the UK to ensure the curricula and training for undergraduate medical students, general practice trainees, trainees in specialties other than genetics and trainee medical geneticists include the requisite genetics content. Additional information on curricula and learning outcomes for medical professionals in the UK is included in Appendix 1. 2. USA Health professionals (across disciplines)
  7. 7. 7 The National Coalition for Health Professions Education in Genetics (NCHPEG) established in 1997 is an interdisciplinary group comprising leaders from over 120 health professional organizations, consumer and voluntary groups across the USA. The NCHPEG prepared core competencies [http://www.nchpeg.org/core/Corecomps2005.pdf] recommending that all health professionals possess the core competencies in genetics to enable them to integrate genetics effectively and responsibly into their current practice. Competency in these areas represents the minimum knowledge/skills/attitudes necessary for health professionals from all disciplines (medicine, nursing, allied health, public health, dentistry, psychology, social work, etc.) to provide care to their patients that involve awareness of genetic issues and concerns. According to NCHPEG, every health care professional should at a minimum be able to: 1. Appreciate the limitations of his or her genetic expertise, 2. Understand the social and psychological; implications of genetic services 3. Know how and when to make a referral to a genetics professional. In addition other recommendations for a genetic curriculum have been developed in the USA for continuing education (Jenkins et al, 2001). b) Nursing A recent consensus document sponsored by NCHPEG detailing the core competencies in genetics for general nurses in the USA and guidelines for development of nursing curricula has now been ratified by a large number of nursing organisations, including the American nurses Association and the International Society of Nurses in Genetics [http://www.isong.org/resources/genetics_genomics_sept2005.pdf]. Previously, a study by Calzone et al ( 2002) was used as a basis for development of a set of core competencies in genetics for oncology nurses working in the USA. The International Society of Nurses in Genetics has, in conjunction with the American Nurses Association, produced a detailed document on the scope and standards of practice for specialist genetic nurses (International Society of Nurses in Genetics and American Nurses Association, 1998). This has been revised and publication of a new edition is imminent. 3. France a) Dentistry Dentists in France are expected to develop competences in genetics (Monteil, 2006). These have been included in the specific competences for dentists included in Section 2. In Appendix 2 information on the development of the genetic counsellor profession in France is provided. The systems described above have been useful in developing proposed sets of core competences for Europe. 1.4 Categorisation of the three professional groups and the need to describe different levels of competence
  8. 8. 8 Given the need to prepare a range of healthcare professionals across the primary, secondary and tertiary care spectrum and the need to set up a common framework for use in a European context, three groups of health professionals that require education and training in genetics were identified: • Health care professional working in a generalist settings • Specialist health professionals (non-genetic) • Specialists in genetics. It was agreed at the Leuven meeting in 2005 to use these groups as a framework for the work on development of a set of core competences. Each group requires a different level and depth of genetics education, and the classification has been adopted to enable the needs of each group to be addressed. In addition to setting for practice (mainstream healthcare, specialist (non-genetic) and specialist genetic, it was agreed to divide the groups by professional background, the main groups being medical, nursing/midwifery, dental and laboratory professionals. For each group, the project team will agree a list of competences and the learning outcomes associated with each competence. The learning outcomes will therefore be available as guidance in the development of curricula that are appropriate to the national context, educational system and healthcare setting of the professional involved. The main groups for the purposes of developing competences are proposed as: 1. Health care professionals working in generalist settings This group includes all healthcare professionals who work in general settings, such as general practitioners, district nurses, physicians in general medicine or surgery, nurses working in general acute settings, general midwives and dentists. Evidence that additional education in genetics is required for nurses has been provided in recent studies (Barr & McConkey, 2006; Burke & Kirk, 2006) that demonstrated that while nurses and midwives perceive a need for genetics knowledge, they feel underprepared for practice in relation to genetics. Similarly, in a study of graduates of six allied health professional training programs, Christianson et al ( 2005) showed that allied health professionals were engaging in tasks related to genetic healthcare with their clients (such as discussing patterns of inheritance), but 78% of those studied did not believe they were sufficiently prepared during training to undertake those tasks. McCann et al (2004) undertook a study of over 500 general practitioners that indicated that the majority were keen to access more training in genetics. Family practitioners surveyed by Burke et al ( 2006) indicated they felt genetics was an important topic for practice but that they felt their educational preparation was lacking. 2. Specialist health care professionals (non geneticist) This group includes practitioners who specialise in one area of healthcare and who require specific genetics education to enable them to provide care to the specialised group of patients. Practitioners in this group would include, for example, colorectal or
  9. 9. 9 breast surgeons, haematologists, fetal medicine midwives, obstetricians, sickle cell disease nurses, and specialist dentists, but this is by no means as exhaustive list. Recent work by Burke et al (2006) indicated that preparation of doctors in a number of specialist areas studied (neurology, cardiology and dermatology) is still inadequate in terms of knowledge of genetics that would be directly relevant to their field of practice. A Working Party on genetics in haemophilia care strongly suggested that nurses working in this speciality have relevant education in genetics to enable them to support patients and their families appropriately (Ludlam et al, 2005). The need for oncology nurses to develop competence in genetics has been suggested by Lewis et al (2006) and Skirton (1999). 3. Specialists in genetics The clinical genetics specialist team may include many professionals. However, not all will be considered specialists in genetics and core competences for only those fulfilling the criteria of specialist professional in genetics will be described. The terminology is challenging because of the range of terms for professionals, for example a medical doctor offering genetic healthcare may be called a medical geneticist in some countries and a clinical geneticist in others. Laboratory staff without a medical qualification may be allowed to offer genetic counselling directly to patients in some countries, where they are called medical geneticists, but this is not permitted in others. The term genetic counsellor is used to describe anyone who offers genetic counselling in some countries, but is the title for non-MD counsellors with a nursing or master qualification in the UK. We have therefore tried to use generic, descriptive terms to classify the professionals involved in giving specialist genetic healthcare. The core competences can then be applied to those professionals that are offering the applicable level and type of genetic healthcare activity in each country. In general, Geneticists [Medical Doctors (MD)], genetic nurse specialists and genetic counsellors (non MD) will be geneticists responsible for clinical care, while cytogeneticists and molecular geneticists will be responsible for laboratory services.
  10. 10. 10 Table 1. Professional titles used in different European countries. Note to readers: please let us know the correct terms used in your country Description Terms used Countries where used (examples) Medical doctor trained in Medical geneticist Italy, Portugal, UK genetics and competent to offer Specialist geneticist specialised clinical genetic Clinical geneticist Belgium,Netherlands, services Sweden, UK, Hungary Laboratory scientists trained in Molecular geneticist Italy (if PhD), UK human genetics and competent Medical geneticist Italy (if MD) to perform molecular genetic Clinical scientist UK testing in a laboratory Diagnostician in molecular Hungary environment biology Laboratory scientists trained in Cytogeneticist Italy (if PhD), UK human genetics and competent Medical geneticist Italy (if MD) to perform cytogenetic testing Clinical scientist UK in a laboratory environment Nurse trained in specialist Genetics nurse Denmark, genetics and competent to Netherlands, provide genetic counselling in a Norway, Sweden, clinical setting. UK Genetic counsellor UK Individual trained through Genetic counsellor France, Sweden, UK, Master’s degree in genetic counselling and competent to provide genetic counselling in a clinical setting. 1.5 Obtaining consensus on a set of core competences It is evident that there are no coherent policies regarding core competence in genetics across Europe at present and in most European countries there are no defined sets of competences. There are, however, curricula described for the education and training of genetic health professionals in many countries. As the practice of medicine is so firmly regulated, this is particularly so for medical doctors and for laboratory staff that are allowed to offer direct patient care. Where these exist, curricula can be used to inform the development of core competences. The examples given in Section 1.4 above demonstrate that it is possible to obtain some consensus on the competences required by health professionals. It was also clear when collecting the data included in the Year One report that that educational preparation has not been consistent with introduction of genetic testing and genetic counselling in Europe and it is felt that a framework of core competences would support the development of appropriate learning outcomes for the necessary courses and training. While the schemes devised by other organisations outside Europe are helpful when used as guidance, it is essential that a framework that is sensitive to the historical background of European countries and the current needs of European citizens is required. For example, in the UK a Knowledge and Skills Framework for
  11. 11. 11 health professionals who are not genetic specialists has been devised. However, the sets of competences, learning outcomes and curricula for professionals working in specialist genetics is now well-developed in the UK and this approach may be more useful when a framework for professional education in genetics already exists. It is also necessary to emphasise that the core competences relate to a specific health professional in a given setting, and are not a means for assessing the general quality of the service. The services should be evaluated using other means, such as the guidelines issued by the Public Policy Committee of the European Society of Human Genetics (available at http://www.eshg.org/). The expert group for Eurogentest Work Package 6.2 has formulated a set of core competences for the groups of health professionals listed in Section 2 of this document. The goal of this document is not to unify the existing genetic services across national boundaries. However, by hopefully achieving consensus, the document will help countries to adjust their education and genetic service delivery systems for the future, according to a coherent set of standards. The consensus document will guide the states of Europe with regard to how the new generation of health professionals should be educated in the post-genomic era and how genetic training should be built into the new European higher education system (the Bologna process) (Confederation of EU Rector’s Conferences and the Association of European Universities, 1999). National societies and professional and patient groups are invited to use this document to refine the competences, learning outcomes and curricula consistent with their own needs. We are actively seeking input and would be willing to meet with professional and patient groups in different countries to receive feedback and to support development of competences that are applicable to the local and regional situation.
  12. 12. 12 PART 2. CORE COMPETENCES FOR HEALTH PROFESSIONALS 2.1 General structure Relevant definitions There are many different models of competence suggested by authors in education and a range of different professional fields (Cheetham & Chivers, 1996) For the purpose of this document, competences are defined as the set of behaviours that are expected by independent professionals (Plasschaert et al, 2002) . The competence therefore describes the behaviour expected by the professional in the particular setting in which he or she works. Learning outcomes are used to dissect the competence into more manageable units that can be the focus of learning. Each learning outcome encompasses particular knowledge, skills or attitudes. In turn the learning outcomes can be used as a basis to build a curriculum. The curriculum should include the information and opportunity for skill development to enable the student or trainee to acquire the necessary knowledge, skills and attitudes to work competently. We are aware that in many countries there are curricula that have been devised to educate and train health professionals in genetics. These curricula could be assessed against the competences and learning outcomes for particular groups of professionals to ensure that all the requisite areas are covered. Before setting out the specific core competences for each type of health professional that may deliver genetic healthcare on the three levels, the main types of interventions used in genetic healthcare can be assigned in broad terms, according to the appropriate professional involved. Table 2 is presented as a general foundational structure for the specific core competences that follow in this section. It must be appreciated however, that each genetic counselling situation is context specific and the appropriate person to provide care may vary according to the precise family circumstances, type of disease and level of expertise of the professional. As a general rule, counselling accompanying predictive and pre-natal testing will be offered by trained genetics specialists (medical and non-medical). However, counselling for a range of other genetic/genomic tests may be undertaken by other health professionals. Key for Table 2: Health care professionals Medical doctor working as generalists MD Medical doctor working in speciality areas other than genetics MDs Medical doctor with clinical genetics speciality MDg Nurse/midwife/genetic counsellor with registered genetic N-MDg licence Cyto/molecular geneticist with registered laboratory licence C/Mg
  13. 13. 13 It should be emphasised that genetic healthcare is based on a team approach, with practitioners from a range of disciplines and professions making a contribution. In many cases, the basic professional background as a precondition for a given competence is not absolute or exclusive. In Canada, the CanMEDS system (The Royal College of Physicians and Surgeons of Canada, 2005) of categorisation for specific competences has been developed, whereby the roles of the medical doctor are classed as: • medical expert • communicator • collaborator • manager • health advocate • scholar • professional. It was decided by the group of experts that this could be an appropriate framework around which to build sets of European competences. An example of a set of competences defined using the CanMEDS system is included in Appendix 3 and the authors would appreciate comments on whether the classification of competences using this system would be helpful in the European context.
  14. 14. 14 Table 2. General foundational structure for genetic healthcare interventions, core competences and type of professional involved. Main stages Competencies Professionals who should of have competency intervention s MD MDs MDg N- C/Mg MDg Initiation of  identify persons and families X X X X genetic whose disorder or condition is examinations determined, partly or fully, by genetic component;  determine the accuracy of the X X clinical diagnosis, and to initiate, if needed, additional clinical examination for exact diagnosis;  be familiar with the feasibility X X X X and accessibility of genetic services that could help persons and families through genetic counselling. Pretest  provide accurate speciality- X X X genetic focused view on the nature of a counselling genetic disorder;  determine the need for and X X X utility of genetic tests relating to a disease or special condition;  understand the meaning of X X X genetic test results and translate those results into practical disease-specific information; X X X  provide information for persons on the benefit and risk of a genetic test prior to obtaining consent for the test. Performing  perform a range of genetic X genetic tests tests for the purpose of diagnosis, and ascertainment of genetic susceptibility and carrier status; X X X  interpret the results of genetic tests that are X X X performed;  provide information to health care professionals based on both the results and interpretation of the results.
  15. 15. 15 Posttest  help individuals and families to X X X genetic understand the information counselling provided during genetic counselling;  determine the risk of X X occurrence or recurrence of a disease or special condition;  facilitate understanding X X X between individuals, families, their family doctors and specialists about genetic disorders, test results, and inheritance pattern; X X X  facilitate communication of risk or potential risk to appropriate family members. Predictive  translate and interpret genetic X X genetic test results to persons who are counselling at high risk of having genetically determined disease in their lifetime. Pre-natal  provide genetic information that X X genetic helps persons or couples make counselling reproductive decision.
  16. 16. 16 2.2 General healthcare professionals 1. Medical doctor – general practitioner • Professional background Medically qualified doctors trained in general practice. • Setting for practice Doctors who are working within a primary care setting, as a general practitioner or within a community or hospital setting in a non-specialist role. Competence Some Proposed Learning Outcomes 1.1 Knows how to take and interprets a family history. 1. Identify patients who may 1.2 Understands the relevant inheritance patterns and have or may mechanisms by which genetic disease may occur. carry a genetic condition. 1.3 Uses a family history and knowledge of inheritance patterns to identify those patients in the practice population with, or at risk of, a genetic condition. 1.4 Demonstrates awareness that the make up of the local population may affect the prevalence of genetic conditions and attitudes towards genetic disease. 1.5 Demonstrates an understanding of heterogeneity in genetic diseases and the principles of assessing genetic risk. 1.6 Demonstrates awareness that reassurance is the appropriate action for patients at population risk. 2.1 Demonstrates awareness that genetic information may 2. Communicate have ethical, legal and social implications. information about genetics in an 2.2 Demonstrates awareness that genetic information understandable, impacts not only on the patient but also on their immediate comprehensible and extended family. and sensitive way, helping patients to make 2.3 Uses appropriate communication skills and informed demonstrates awareness of the need for confidentiality decisions and and a non-directive approach. choices about their care. 2.4 Considers the patient’s cultural and religious background and beliefs concerning inheritance when providing care for people with, or at risk of, genetic conditions.
  17. 17. 17 3.1 Demonstrates an awareness of the different uses of 3. Manage genetic tests (diagnostic, predictive, carrier testing) and patients with their limitations. genetic 1 conditions, using 3.2 Demonstrates an awareness of the need to ensure accepted that systems are in place to follow-up patients who have, guidelines. or are at risk of, a genetic condition and have chosen to undergo regular surveillance. 3.3 Demonstrates an awareness that preventative measures exist for some genetic conditions and advises patients of these. 3.4 Describes the reproductive options available to those with a known genetic condition, (including: having no children; adoption; gamete donation; pre-natal diagnosis). 3.5 Demonstrates an awareness of antenatal and other screening programmes for genetic conditions and know where to obtain information on these programmes for themselves and for patients. 3.6 Understands and uses the national guidelines that influence healthcare provision for those with genetic conditions. 4. Obtain 4.1 Understands the limits of his or her own genetics specialist help expertise and know when and where to seek advice. and advice on inherited 4.2 Understands the organisation of genetics services in conditions. his or her region or country. 4.3 Makes appropriate referrals to genetics services. 5.1 Demonstrates awareness that, because genetic 5. Co-ordinate conditions are often multi-system disorders, care with other comprehensive patient management is likely to involve primary care liaison with other healthcare professionals. professionals, geneticists and other appropriate specialists.
  18. 18. 18 6.1 Demonstrates an awareness of the emotional impact 6. Offer of a genetic diagnosis on a patient and their family. appropriate psychological 6.2 Discusses with the patient the range of support and social services available, both professional and lay. support to 6.3 Demonstrates an awareness of the importance of the patients and social and psychological impact of a genetic condition on families affected the patient and their family, dependants and employer. by a genetic condition. Adapted from Farndon et al. (2006) ‘Genetics in Primary Care’ Royal College of General Practitioners and from Burke et al. (2005b)
  19. 19. 19 2. Nurse /allied health professional • Professional background Nurses and allied health professionals. • Setting for practice Practitioners who are working in a general setting, e.g. primary care, acute medical or surgical ward or in the community. Competence Some proposed learning outcomes 1. Identify 1.1 Explores significant family history to assess potential individuals who genetic risk of altered health states. might benefit from genetic 1.2 Obtains relevant genetic information resources necessary information and for practice. services. 1.3 Understands and informs individuals about the role of the specialist genetics services and the referral pathway for appropriate individuals. 1.4 Understands the basic inheritance patterns and mechanisms by which genetic disease may occur. 2. Tailor genetic 2.1 Demonstrates the use of appropriate communication skills information and in relation to the individual’s level of understanding of genetics services to the issues. individual’s culture, 2.2 Appreciates the impact of culture, ethnicity and religion on knowledge and a individual’s potential use of genetic information and services. language. 3. Uphold the 3.1 Explores how personal values and beliefs in relation to rights of all ethical, cultural, religious and ethnic issues could impact on individuals to client care. informed decision making 3.2 Facilitates the individual’s rights to self determination and voluntary through ensuring informed decision making and voluntary action. action. 3.3 Ensure that the particular needs of those unable to give informed consent in relation to accessing genetic information are addressed. 3.4 Be aware of situations where autonomous choice may have an adverse impact on the health of the individual or others may be adversely affected. 4. Demonstrate 4.1 Explores the role of genetic factors in disease, including
  20. 20. 20 knowledge of the the common inherited conditions. role of genetic and other factors 4.2 Understands how disease expression throughout the in health and lifecycle may be influenced by genetic and environmental disease. factors. 4.3 Appreciates how family genetic history may influence health education for both individuals and populations. 5. Demonstrate a 5.1 Demonstrates confidentiality and maintains privacy when knowledge and discussing and recording genetic information. understanding of the utility and 5.2 Have an awareness of the potential risks, benefits and limitations of limitations of genetic testing and access to genetic genetic testing information. and information. 5.3 Have an awareness of the ethical, legal and social implications of genetic information for individuals and families. 5.4 Responds appropriately to enquiries about genetic concerns. 6. Recognise the 6.1 Explains how specialist genetic services and other limitation of one's agencies provide appropriate patient/client care. own genetic expertise. 6.2 Develops a collaborative approach to patient/client care in relation to genetics, with other statutory and voluntary organisations. 7. Obtain and 7.1 Incorporates current genetic knowledge from reputable communicate sources into practice. credible current information about 7.2 Utilises reliable genetic evidence when communicating genetics for self, with patient/clients. clients and colleagues. Adapted from Kirk et al (2003).
  21. 21. 21 3. Biologist • Professional background The biologist is generally educated via a graduate program, gaining additional training in laboratory techniques at the bench. • Setting for practice Scientific laboratories in any clinical setting. Competence Some proposed learning outcomes 1. Appreciate 1.1.Demonstrates understanding of the boundaries of his or limitations of his her professional practice. or her genetics expertise. 1.2 Seeks assistance from appropriate genetics experts. 2. Identify test 2.1 Demonstrates ability to interpret test results that may results that may provide information about the status of a patient in relation to a indicate the genetic condition. presence or risk of a genetic 2.2 Demonstrates awareness that the make up of the local condition in a population may affect the prevalence of genetic conditions and patient. attitudes towards genetic disease. 3. Use 3.1 Shows awareness of the influence of individual genetic knowledge of variation on the results of tests undertaken in the laboratory. human genetics to inform 3.2 Understands he benefits and limitation of tests performed practice. and how genetic variation might affect this. 3.3 Understands the basic inheritance patterns and mechanism by which genetic disease may occur. 4. Know how and 4.1 Identifies patients who might benefit from further when to make a investigation or referral to genetic services. referral to a genetics 4.2 Shows awareness of the mechanism for referring patients professional. for genetic services within his or her own region or country.
  22. 22. 22 4. Health and social care workers in other categories, including pharmacist, clinical psychologists, social workers ophthalmologists, dentists. Competence Some proposed learning outcomes 1. Appreciate 1.1 Demonstrates understanding of the boundaries of his or limitations of his her professional practice. or her genetics expertise. 1.2 Seeks assistance from appropriate genetics experts. 2. Identify 2.1 Demonstrates ability to gather relevant family history individuals who information. might be affected or at risk of a 2.2 Demonstrates awareness that the make up of the local genetic population may affect the prevalence of genetic conditions and condition. attitudes towards genetic disease. 3. Use 3.1 Understands the benefits and limitations of genetic tests. knowledge of human genetics 3.2 Understands the basic inheritance patterns and to inform mechanisms by which genetic disease may occur. practice. 3.3 Demonstrates awareness that, because genetic conditions are often multi-system disorders, comprehensive patient management is likely to involve liaison with other healthcare professionals. 4. Know how and 4.1 Identifies clients who would benefit from genetic services. when to make a referral to a 4.2 Shows awareness of the mechanism for referring patients genetics for genetic services within his or her own region or country. professional.
  23. 23. 23 2.3 Specialists (speciality other than genetics) 1. Medical doctor • Professional background The medical specialist has undertaken additional training in a particular speciality after completing basic medical training. • Setting for practice Medical specialists generally may work in public institutions, private institutions or in private practice. Competence Some Proposed Learning Outcomes 1.1 Knows how to take and interpret a family history. 1. Identify individuals with 1.2 Is able to draw a family tree. or at risk of a genetic condition. 1.3 Uses a family history and knowledge of inheritance patterns to identify those patients in the practice population with, or at risk of, a genetic condition. 1.4 Understands the relevant inheritance patterns and mechanisms by which genetic disease may occur. 1.5 Demonstrates an understanding of heterogeneity in genetic diseases and the principles of assessing genetic risk. 1.6 Demonstrates expertise in diagnosis of genetic conditions related to own speciality. 1.7 Demonstrates awareness that patients may present with a genetic condition of which there is no family history. 2.1 Demonstrates awareness that genetic information may 2. Communicate have ethical, legal and social implications. information about genetics in an 2.2 Demonstrates awareness that genetic information understandable, impacts not only on the patient but also on their immediate comprehensible and extended family. and sensitive way, helping patients to make 2.3 Uses appropriate communication skills and informed demonstrates awareness of the need for confidentiality decisions and and a non-directive approach. choices about their care. 2.4 Is able to explain potential options for treatment or prophylaxis of conditions within own speciality.
  24. 24. 24 2.5 Demonstrates an awareness that a patient’s cultural and religious background and beliefs concerning inheritance are important to consider in providing care for people with, or at risk of, genetic conditions. 3.1 Knows the differences and similarities between 3. Be familiar diagnostic, predictive and carrier genetic testing. with the uses and limitations of 3.2 Understands the limitations of genetic tests, genetic testing particularly in relation to his or her own specialty. and be able to use genetic testing 3.3 Knows the clinical indications for ordering genetic tests appropriately 3.4 Knows how to organise genetic testing, including how to access help via the local clinical genetics service. 3.5 Is aware of the ethical issues involved in genetic testing, such as confidentiality, testing children, and pre- symptomatic testing. 4.1 Ensures that systems are in place to follow-up patients 4. Manage who have, or are at risk of, a genetic condition related to patients with his or her specialty. genetic conditions, using 4.2 Demonstrates an awareness of preventative measures accepted for genetic conditions related to his or her specialty. guidelines. 4.3 Practises within the national guidelines that influence healthcare provision for those with genetic conditions related to his or her specialty. 5. Obtain 5.1 Understands the limits of his or her own genetics specialist help expertise and know when and where to seek advice. and advice on inherited 5.2 Understands the organisation of genetics services in conditions, as his or her region or country. appropriate. 5.3 Recognises the need to offer appropriate referral for comprehensive genetic counselling. 5.4 Makes appropriate referrals to genetics services. 6. Co-ordinate 6.1 Liaises appropriately with other healthcare care with primary professionals. care professionals, 6.2 Acts as a specialist resource to other health geneticists and professionals (including the genetics team) in relation to other appropriate genetic conditions related to his or her specialty. specialists.
  25. 25. 25 7.1 Demonstrates an awareness of the emotional impact 7. Offer of a genetic diagnosis on a patient and their family. appropriate psychological 7.2 Demonstrates awareness of the range of support and social services available, both professional and lay. support to 7.3 Demonstrates an awareness of the importance of the patients and social and psychological impact of a genetic condition on families affected the patient and their family, dependants and employer. by a genetic condition. Adapted from Farndon et al (2006) ‘Genetics in Primary Care’ Royal College of General Practitioners Curriculum statement 6 Burke et al (2005a). ‘A Consultation on Proposed Core Learning Outcomes in Genetics for Non-Genetics Specialist Registrars’ NHS National Genetics Education and Development Centre http://www.geneticseducation.nhs.uk/teaching/non_genetics_sprs.asp#core
  26. 26. 26 2. Midwife or nurse working in a specialist field • Professional background Nurses and midwives may develop specialist expertise with one client group (e.g. children, pregnant women) or in one area of health care (e.g. cancer care, neurology). Specialist nurses and midwives generally have post –registration or post graduate education in their field of specialisation. • Setting for practice Specialist nurses and midwives practice in both acute and community health services that may be publicly or privately funded. Exceptionally, specialist nurses or midwives may be self-employed. Competence Some proposed learning outcomes 1. Identify 1.1 Explores significant family history to assess potential risk individuals who of genetic conditions, especially in relation to own area of might benefit specialisation. from genetic information and 1.2 Obtains relevant genetic information resources necessary services. for specialist practice. 1.3 Understands and informs individuals concerning the roles of the specialist genetics services and the referral pathway for appropriate individuals. 1.4 Understands the relevant inheritance patterns and mechanisms by which genetic disease may occur. 2. Tailor genetic 2.1 Demonstrates the use of appropriate communication skills information and in relation to the individual’s level of understanding of genetics services to the issues. individual’s culture, 2.2 Appreciates the impact of culture, ethnicity and religion on knowledge and a individual’s potential use of genetic information and services. language. 3. Uphold the 3.1 Explores how personal values and beliefs in relation to rights of all ethical, cultural, religious and ethnic issues could impact on individuals to client care. informed decision making 3.2 Facilitates the individual’s rights to self determination and voluntary through ensuring informed decision making and voluntary action. action. 3. 3 Ensures that the particular needs of those unable to give informed consent in relation to accessing genetic information are addressed. 3.4 Be aware of situations where autonomous choice may have an adverse impact on the health of the individual or others may be adversely affected. 4. Demonstrate 4.2 Explores the role of genetic factors in health and disease,
  27. 27. 27 knowledge of the especially in relations to own area of specialisation. role of genetic and other factors 4.2 Educates other health professionals in relation to genetics in health and and his or her own speciality. disease. 4.3 Acts as a specialist resource to other health professionals (including the genetics team) in relation to genetic conditions related to his or her specialty. 5. Demonstrate a 5.1 Demonstrates confidentiality and maintain privacy when knowledge and discussing and recording genetic information. understanding of the utility and 5.2 Has an awareness of the potential risks, benefits and limitations of limitations of genetic testing and access to genetic information genetic testing for the patient. and information. 5.3 Responds appropriately to enquiries about genetic concerns. 6. Recognise the 6.1 Explores own strengths and weaknesses in genetic limitation of one's knowledge and practice. own genetic expertise. 6.2 Works collaboratively with other statutory and voluntary organisations. 7. Obtain and 7.1 Employs a range of appropriate genetic information communicate resources to inform practice. credible current information about 7.2 Incorporates current genetic knowledge from reputable genetics for self, sources into practice. clients and colleagues. 7.3 Utilises reliable genetic evidence when communicating with patient/clients. Adapted from Kirk et al (2003).
  28. 28. 28 3. Specialist Dentist • Professional background The dental specialist has undertaken additional training in a particular speciality after completing basic dental training (paediatric dentist, special needs dentist, periodontologists, orthodontists). As dentists are not trained as medical practitioners, specialist dentists are included here in a specific section. • Setting for practice Dental specialists generally may work in public institutions, private institutions or in private practice. Competence Some Proposed Learning Outcomes 1.1 Takes and interprets a family, medical and dental 1. Identify history. patients with a genetic condition. 1.2 Uses a family history and knowledge of inheritance patterns to identify those patients in the practice population with, or at risk of, a genetic condition. 1.3 Demonstrates awareness that the make up of the local population may affect the prevalence of genetic conditions and attitudes towards genetic disease. 1.4 Demonstrates an understanding of heterogeneity in genetic diseases and the principles of assessing genetic risk. 1.5 Recognises dental/orofacial anomalies and their genetic basis. 1.6 Recognises that the dental problem may be part of or a trigger sign for a general genetic disease. 2.1 Demonstrates awareness that genetic information may 2. Communicate have ethical, legal and social implications. information about genetics in an 2.2 Demonstrates awareness that genetic information understandable, impacts not only on the patient but also on their immediate comprehensible and extended family. and sensitive way, helping patients to make 2.3 Uses appropriate communication skills and informed demonstrates awareness of the need for confidentiality decisions and and a non-directive approach. choices about their care. 2.4 Explains potential options for treatment or prophylaxis of conditions within own speciality.
  29. 29. 29 2.5 Demonstrates an awareness that a patient’s cultural and religious background and beliefs concerning inheritance are important to consider in providing care for people with, or at risk of, genetic conditions. 2.6 Demonstrates an awareness of the importance of the social and psychological impact of a genetic condition on the patient and their family, dependants and employer. 3.1 Appropriately uses a range of genetic tests in 3. Manage collaboration with the geneticist. patients with genetic 3.2 Understand the limitations of genetic tests, particularly conditions, using in relation to his or her own specialty. accepted 2 guidelines. 3.3 Ensures that systems are in place to follow-up patients who have, or are at risk of, a genetic condition related to his or her area of specialisation. 3.4 Make the appropriate diagnosis through differential diagnosis. 3.5 Explains the dental/orofacial component of the disease to the patient as well as treatment options. 3.6 Practises within the national guidelines that influence healthcare provision for those with genetic conditions related to his or her specialty. 4. Obtain 4.1 Understands the organisation of genetics services and specialist help reference centres in his or her region or country. and advice on inherited 4.2 Makes appropriate referrals to genetics services and conditions, as reference centres. appropriate. 5. Co-ordinate 5.1 Liaises appropriately with other healthcare care with primary professionals. care professionals, 5.2 Acts as a specialist resource to other health geneticists and professionals (including the genetics team) in relation to other appropriate genetic conditions related to his or her specialty. specialists.
  30. 30. 30 6.1 Demonstrates an awareness of the emotional impact 6. Offer of a genetic diagnosis on a patient and their family. appropriate psychological 6.2 Demonstrates awareness of the range of support and social services available, both professional and lay. support to patients and families affected by a genetic condition.
  31. 31. 31 2.4 Genetics specialist General comments • Clinical genetics, a medical specialty as well as an extensive field of knowledge, provides a unique health care service to people. • Although clinical genetics interacts with every medical discipline during service delivery, one of its distinctive objectives is the care of future generations through genetic counselling and prenatal diagnosis (i.e. transgenerational care). This service is based on interdisciplinary consultations, wide-ranging diagnostic investigations, communication processes and emotional support for the patient and family. The competencies, therefore, should be determined by focusing on the genetic counselling, genetic diagnosis and management of uncertainty when a diagnosis is not made. • In the provision of genetic services, the interventions of the health professionals may be grouped into the following main categories: initiation of genetic examinations diagnosis presentation of options for testing/management/prevention counselling with respect to decision-making support after decision-making performing genetic tests post-test counselling. • For practical reasons, it is worth distinguishing prenatal counselling and predictive counselling as special interventions undertaken by genetics specialists. • Although the skills and attitudes are basically not professional specific, there are some which needs special knowledge and training. Hence, in the preparation of professionals to operate in the specialist genetic services there are distinct competencies which should be bound to the relevant system of registration and/or of licensing of practitioners in the country concerned. • Increasingly, medical specialist in areas outside traditional medical genetics may develop specific areas of expertise in genetics and practice as a geneticist specialising in a particular disease or patient group. The foremost example of this is the oncology or cancer geneticist. However, it is envisaged that specialists in other fields (such as cardiovascular genetics) will seek to practice as genetic specialists. As at present these are few, we have included only the competences required by an oncology geneticist. This may however be used as a model for defining competences in other genetic specialties.
  32. 32. 32 1. Clinical geneticist • Professional background The Clinical or Medical Geneticist is a qualified medical practitioner who has undertaken specific training in medical genetics, as specified in the country of practice and is licensed to offer services as a specialist in genetics according to the law in the country of practice. • Setting for practice In general, the Clinical Geneticist will function as part of a multi-disciplinary team within a specialist genetic service, often operating as a tertiary care facility. In some cases, the Clinical Geneticist will work within a team that offers services to a particular part of the population, such as children or pregnant women or to patients who are affected with a particular type of disease, such as cancer, neurological or metabolic conditions. Competence Some proposed learning outcomes 1. Identify individuals and families 1.1 Is aware of the potential genetic whose disorder or condition is component to disease. determined, partly or fully, by a genetic component. 1.2 Takes an accurate family and medical history. 2. Determine the accuracy of the 2.1 Ascertains sufficient medical, family clinical diagnosis, and initiate, if and personal information from the client needed, additional clinical to make appropriate genetic risk examination to make an exact assessment. diagnosis. 2.2 Ascertains medical information from other sources to confirm family information and diagnosis. 2.3 Performs clinical examinations as appropriate. 2.4 Orders clinical investigations as appropriate. 2.5 Understands all potential patterns of inheritance and the underlying mechanisms by which genetic disease may occur. 3. Be familiar with the feasibility and 3.1 Seeks to raise awareness of available accessibility of genetic services that services and resources related to genetic could help persons and families healthcare. through genetic counselling. 3.2 Acts as a resource for other professionals and lay groups.
  33. 33. 33 4. Provide an accurate speciality- 4.1 Actively seeks opportunities to focused view on the nature of a update knowledge and skills, and reflects genetic disorder. on the implications of these for own practice and that of professional colleagues. 4.2 Collects, evaluates and uses relevant information about the genetic disorder in question. 4.3 Critically appraises current evidence to inform practice and professional development. 4.4 Disseminates evidence of good practice and service improvement through verbal and written media. 4.5 Facilitates understanding of how genetics impacts on affected individuals, their families, partners and carers. 5. Determine the need for and utility 5.1 Is aware of current approaches and of genetic tests relating to a disease limitations of tests. or special condition. 6. Understand the meaning of genetic 6.1 Maintains own knowledge base. test results and translate those results into practical disease-specific 6.2 Provides information for persons on information. the benefit and risk of a genetic test prior to obtaining consent for the test. 7. Help individuals and families to 7.1 Provides information about the understand the information provided genetic disorder appropriate to the client’s during genetic counselling. assessed needs, reflecting their values, religious and cultural beliefs and preferences. 7.2 Provides information based upon appropriate interpretation of genetic and clinical knowledge. 7.3. Communicates with respect to the genetic risk assessment and possible options.
  34. 34. 34 8. Facilitate understanding between 8.1 Communicates information about the individuals, families, their family specific genetic disorder, test results, and doctors and specialists about genetic inheritance pattern relevant to the disorders, test results, and condition to the affected or at risk inheritance patterns. individual. 8.2 Promotes dissemination of information to family members as appropriate. 8.3 Participates in education programs to promote understanding of genetic conditions amongst health professionals. 8.4 Promotes public understanding of genetic conditions, tests and inheritance patterns through appropriate means. 9. Determine the risk of occurrence or 9.1 Make an accurate genetic risk recurrence of a disease or condition. assessment based on diagnosis and published data. 10. Translate and interpret genetic 10.1 Conveys the implications of test test results to persons who are at risk results to individuals in terms of potential of having genetically determined prognosis, screening options and disease in their lifetime. management options. 11. Provide genetic information that 11.1 Enables clients to make informed helps persons or couples make choices about the implications of their informed reproductive decisions. family history. 11.2 Provides information on a range of reproductive options. 12. Work within the boundaries of 12.1 Recognises practice limitations and ethical practice. demonstrates referrals to other health professionals when appropriate. 12.2 Consults other health professionals when the client’s needs fall outside the scope of genetic practice. 12.3 Upholds professional standards of safe and ethical practice at all times. 12.4 Uses professional standards of practice to evaluate own and others’ performance. 12.5 Contributes to the debate on ethical challenges in genetic practice.
  35. 35. 35 2. Oncology geneticist • Professional background The oncology geneticist or cancer geneticist is a qualified medical practitioner who is trained in clinical genetics and cancer genetics. • Setting for practice The oncology geneticist may work as part of a multi-disciplinary team within a specialist genetic service, often operating as a tertiary care facility. However, he or she may also work within a team that offers services to those individuals or families who have been diagnosed with cancer or have a family history of cancer in a department affiliated with oncology or cancer services. The oncology geneticist is expected to have the basic competences applicable to the clinical geneticist. Competence Some proposed learning outcomes 1. Make an assessment of 1.1 Elicits an accurate family history of cancer. the risk associated with inherited cancer for 1.2 Verifies details of cancer family history. individuals and families. 1.3 Recognises inherited conditions which predispose to specific cancers. 1.4 Understands the various models for risk estimation dependant on family history, and their accuracy. 1.5 Estimates the likelihood that the individual counselled will develop specific cancers. 1.6 Understands the implications of specific tumour morphology in relation to cancer susceptibility. 2. Communicate cancer 2.1 Elicits the individual’s concerns and responds genetic risk information to appropriately. individuals, families and other healthcare providers. 2.2 Clearly communicates the principles of oncology and genetics as required to inform individuals as to their inherited cancer risk. 2.3 Discusses the options available to those family members who are assessed as being at increased risk of cancer. 2.4 Facilitates discussion of risk or potential risk to appropriate family members.
  36. 36. 36 3. Utilise genetic and other 3.1 Recognises when genetic testing is appropriate laboratory tests appropriate in a family. to support genetic healthcare of individuals and families at 3.2 Administers such tests, and discusses the risk of inherited cancer. communication of the results of genetic tests to at- risk relatives with appropriate consent. 3.1. Arranges predictive testing for at-risk relatives where the mutation is known, adhering (as appropriate) to a predictive testing protocol. 3.4 Understands the sensitivity, specificity and significance of tests on tumour samples. 3.5 Understands the implications of the detection of a variant of unknown significance in a cancer predisposing gene, and the strategies that can be employed to elucidate the pathogenicity further. 3.6 Understands the frequency of specific ancestral mutations in certain populations, and the implications for testing for such mutations. 4. Identify, communicate and 4.1 Determines the level of cancer risk for which arrange appropriate surveillance is cost-effective and appropriate for surveillance protocols, with individuals with a family history of common discussion of the benefits cancers. and limitations of such surveillance. 4.2 Discusses options for surveillance with the individuals concerned. 4.3 Liaises with other medical disciplines to provide appropriate surveillance and management for individuals at increased genetic risk of specific cancers. 5. Act to help prevent 5.1 Understands the relevant and appropriate occurrence or recurrence of general health and lifestyle advice which may be cancer where possible. appropriate to give. 5.2 Understands any modification of management or treatment that may be appropriate for individuals carrying cancer predisposing mutations, as distinct from that appropriate for people in the general population.
  37. 37. 37 6. Utilise the healthcare 6.1 Understands the organisation of cancer system for promotion of genetics services, and how health professionals cancer genetics services. such as trained genetic counsellors and nurses may contribute to these services. 6.2 Understands the training that such healthcare professionals require in order to be competent to run cancer genetics clinics. Reference: American Society of Clinical Oncology (1997)
  38. 38. 38 3. Specialist genetic nurse and genetic counsellor While the work undertaken by genetic nurses and genetic counsellors is highly comparable, they may have different professional backgrounds and therefore while one set of competences is presented, the professional backgrounds are described separately. Professional roles vary across the countries of Europe, therefore this is presented as a suggested framework which may need to be adapted to local contexts. a. Specialist genetic nurse • Professional background The specialist genetic nurse is a registered nurse who has undertaken specific education and training to enable him or her to develop the knowledge, attitudes and skills required to offer a specialist service to clients or patients. Many specialist genetic nurses have additional qualifications in either midwifery or community nursing. In some countries a registration system exists to ensure the nurse has achieved appropriate standards of competence before working in an autonomous manner within the team. b. Genetic counsellor • Professional background The genetic counsellor has typically completed a relevant first degree (e.g. in nursing, genetics, biology, psychology or social work), followed by a Master’s degree in genetic counselling which includes human genetics and counselling skills training. In some countries a registration system exists to ensure the nurse has achieved appropriate standards of competence before working in an autonomous manner within the team. • Setting for practice The specialist genetic nurse or genetic counsellor may be employed as part of a multi-disciplinary team providing generic genetic services. The setting in which the nurse or counsellor works may be focussed on a specific disease or genetic setting (such as oncology or prenatal). In general, genetic nurses and counsellors will work with families with a pre-established diagnosis or in a general setting under the supervision of a clinical doctor. The genetic nurse or counsellor will not be responsible for making diagnoses. * As the work undertaken by specialist genetic nurses and genetic counsellors are highly comparable, one set of competences is presented here for both types of practitioners.
  39. 39. 39 Competence Learning outcomes 1. Establish 1.1 Establishes an environment which facilitates client to relationship and expression of feelings, anxieties, beliefs, and expectations clarify clients’ and considers clients’ experiences. concerns and expectations. 1.2 Identifies client needs. 1.3 Enables clients to make informed choices about the implications of their family history. 1.4 Takes appropriate action to meet identified needs with the agreement of the client. 2. Make appropriate 2.1 Ascertains sufficient medical, family and personal and accurate genetic information from the client to make appropriate genetic risk risk assessment. assessment. 2.2 Ascertains medical information from other sources to confirm family information and diagnosis. 2.3 Understand the patterns of inheritance and the underlying mechanisms by which genetic disease may occur. 3. a. Convey clinical 3.1 Provides information about the genetic disorder and genetic appropriate to the client’s assessed needs, reflecting their information to clients, values, religious and cultural beliefs and preferences. appropriate to their individual needs. 3.2 Provides information based upon appropriate 3..b. Explain options interpretation of genetic and clinical knowledge. available to the client, including the 3.3. Communicates with respect to the genetic risk risks, benefits and assessment and possible options. limitations. 3.c. Evaluate the 3.4 Supports dissemination of information about the genetic understanding of the disorder to at risk relatives by the client. individual related to the topics being discussed. 3.d. Acknowledge the implications of individual and family experiences, beliefs, values and culture for the genetic counselling process.
  40. 40. 40 4. Make a 4.1 Ascertains psychological needs of the individual or assessment of family. clients’ needs and resources and 4.2 Respecting client preference, provides support and provide support, makes referrals to other agencies (such as psychologist or ensuring referral to patient support groups). other agencies as appropriate. 4.3 Identify and support clients’ access to local, regional and national resources and services 5. Use of a range of 5.1 Uses safe, effective and appropriate counselling skills to counselling skills to support clients to make adjustments and decisions. facilitate clients’ adjustment and decision- making. 6. Document 6.1 Uses a systematic approach to collecting and information including maintaining comprehensive and accurate records that detail case notes and the rationale underpinning any interventions. correspondence in an appropriate 6.2 .Maintains confidentiality and security of written and manner. verbal information. 7. Find and utilise 7.1 Collects, evaluates and uses relevant information about relevant medical and the genetic disorder in question. genetic information for use in genetic 7.2 Critically appraises current evidence to inform practice counselling. and professional development. 7.3 Disseminates evidence of good practice and service improvement through verbal and written media. 8. Demonstrate 8.1 Addresses client needs in a sensitive and fair manner ability to organise making best use of resources available and prioritise a case load. 8.2 Prioritises according to patient need. 9. Plan, organise and 9.1 Facilitates understanding of how genetics impacts on deliver professional affected individuals, their families, partners and carers. and public education 9.2 Seeks to raise awareness of available services and resources related to genetic healthcare. 9.3 Acts as a resource for other professionals and lay groups. 10. Establish 10.1 Promotes patient-centred care in partnership with the effective working client, their family, and appropriate care providers. relationships to function within a 10.2 Facilitates communication via a strong multidisciplinary multi-disciplinary network of professional and lay colleagues. team and as part of the wider health and 10.3 As appropriate, co-ordinates patient and family care. social care network.
  41. 41. 41 11. Contribute to the 11.1 Evaluates own practice and that of others in the light of development and new evidence and modifies practice appropriately. organisation of genetic services. 11.2 Uses skills of critical appraisal to consider how new evidence may contribute to the improvement of service organisation and delivery. 11.3 Actively seeks opportunities to meet with colleagues to discuss professional issues and innovations in care, in order to disseminate best practice and improve standards of care. 11.4 Actively seeks opportunities to collaborate with colleagues in audit and research that has the ultimate aim of improving client care 12. Practice in 12.1 Upholds professional standards of safe and ethical accordance with an practice at all times. appropriate code of ethical conduct. 12.2 Uses professional standards of practice to evaluate own and others’ performance. 12.3 Recognises the duty to seek professional advice if standards of care are threatened. 12.4 Contributes to the debate on ethical challenges in genetic practice. 12.5 In normal circumstances discloses information about individuals to appropriate third parties only with the client’s permission. 13. Recognise and 13.1 Recognises practice limitations and demonstrates maintain professional referrals to other health professionals when appropriate. boundaries and limitations of own 13.2 Consults other health professionals when the client’s practice. needs fall outside the scope of genetic practice. 13.3 Refers clients to colleagues when necessary. 14. Demonstrate 14.1 Demonstrates reflective practice, which informs future reflective skills and clinical interactions. personal awareness for the safety of 14.2 Maintains a portfolio recording reflection on practice. individuals and families. 14.3 Accesses counselling and/or clinical supervision to underpin and enhance practice. 15. Present 15.1 Enables clients to make an informed choice on whether opportunities for to participate in research project or not. clients to participate in research projects in a manner that facilitates informed choice.
  42. 42. 42 16. Demonstrate 16.1 Actively seeks opportunities to update knowledge and continuing skills, and reflects on the implications of these for own professional practice and that of professional colleagues. development as an individual practitioner and for the development of the profession. Adapted from: Skirton H et al (2003) and AGNC (2006).
  43. 43. 43 4. Molecular geneticist The molecular geneticist is a qualified laboratory specialist who is trained in molecular genetic methodology and its usage in diagnostic, prognostic/ predictive purposes, ascertainment of carrier status in patients and their family members. In some cases the molecular geneticist will have a medical qualification. He/she is able to interpret results and their clinical consequences in collaboration with the clinical geneticist. • Setting for practice Molecular genetics laboratory, publicly or privately funded, often linked to genetics service or academic department of medical genetics. Competence Some proposed learning outcomes 1. Work 1.1 Has expert knowledge of the principles of molecular independently in genetics. the molecular genetics testing 1.2 Is aware of the significance of molecular genetics in laboratory. medicine and healthcare. 1.3 Demonstrates ability to manage workload effectively. 1.4 Appropriately prioritises ordered tests. 1.5 Understands safe codes of practice in the laboratory and adheres to these. 1.6 Supervises laboratory technicians. 1.7 Implements and follows up programs of internal and external quality assessment. 1.8 Ensures maintenance and calibration of laboratory equipment and devices is performed. 2. Perform a 2.1 Isolates nucleic acids from human samples and other range of genetic organisms. tests for the purposes of 2.2 Chooses a suitable technique for DNA and RNA diagnosis, examination. ascertainment of 2.3 Performs tests using appropriate molecular genetic carrier status and methodology, including restriction endonucleases, gel predictive electrophoresis, PCR and its modification, mutation and testing. polymorphism analyses, direct and indirect DNA diagnostics, sequencing and high throughput techniques. 2.4 Keeps accurate and contemporaneous records of the analyses.
  44. 44. 44 3. Interpret the 3.1 Understands principles of inheritance to determine the risk results of genetic of occurrence or recurrence of a disease or special condition tests that are in the family, according to results of laboratory investigation. performed. 3.2 Is familiar with current scientific literature to inform interpretation of genetic test results. 3.3 Participates in interpretation of the analyses. 3.4 Evaluates the results of tests. 3.4 Uses molecular genetics analysis software and computer systems appropriately. 4. Provide 4.1 Effectively communicates results and analyses and information to implications for the patient and/or family to clinical staff who health care are providing genetic counselling for the family. professionals 4.2 Provides clear written reports on the results of the based on both analyses. the results and interpretation of 4.3 Uses recognised scientific nomenclature according to the the results. latest international recommendations. 5. Participate in clinical research and in the introduction of new methods.
  45. 45. 45 5. Cytogeneticist • Professional background The clinical cytogeneticist is a qualified laboratory specialist who is trained in the cultivation of cells for both prenatal and postnatal chromosomal analyses, processing of cells, methods of classical and molecular cytogenetic methods and karyotyping. He/she is able to interpret results and their clinical consequences in collaboration with clinical colleagues. In some cases the cytogeneticist will have a medical qualification. • Setting for practice Cytogenetics laboratory, publicly or privately funded, often linked to a clinical genetics service or academic institution of medical genetics. Competence Learning outcomes 1. Work 1.1 Has an expert knowledge of the principles of meiosis, independently in mitosis, chromosome segregation, chromosome inactivation the cytogenetic and the causes of chromosomal aberration. laboratory. 1.2 Demonstrates ability to manage workload effectively. 1.3 Appropriately prioritises ordered tests. 1.4 Demonstrates ability to manage workload effectively. 1.5 Understands safe codes of practice in the laboratory and adheres to these. 1.6 Supervises laboratory technicians. 1.7 Implements and follows up programs of internal and external quality assessment. 1.8 Ensures maintenance and calibration of laboratory equipment and devices is performed. 2. Work 2.1 Deals with human lymphocytes, amniocytes or other proficiently in the human cells for cytogenetic examination. cultivation of cells for both 2.2 Performs analyses by the classical cytogenetic methods or prenatal and other methods including molecular cytogenetic methods. postnatal 2.3 Calculates and estimates recurrent risk of the disease in chromosomal the family according to the results of laboratory investigations. examination, processing of 2.4 Utilises cytogenetic analysis software and computer cells, preparation programs appropriately. of slides and 2.5 Keeps accurate and contemporaneous records of karyotyping. performed analyses.

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